Forms and Documents
- Confirmation of a clinical diagnosis
- Mutation-specific testing of family members of an affected individual with known mutation(s)
- Prenatal diagnosis in at-risk pregnancies
- Capillary Sequencing
- 743.4 Coloboma and other anomalies of anterior segment
- 743 Congenital anomalies of eye
- 743.1 Microphthalmos, Dysplasia of eye, Hypoplasia of eye, Rudimentary eye
- 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
- Ng et al (2004) Nat Genet 36;4:411-416.
- Martinez-Garay et al (2007) Eur J Hum Genet 15:29-34.
- Horn et al (2005) Eur J Hum Genet 13: 563-569.
- Hilton et al (2009) Eur J Hum Genet 1-11.